Case report: novel DNAH11 compound heterozygous variants including an exon 30–54 duplication in a child with a highly suggestive primary ciliary dyskinesia phenotype

Primary ciliary dyskinesia (PCD) is a rare disorder characterized by dysfunction of motile cilia and chronic progressive respiratory disease, mianly inherited in an autosomal recessive manner. Biallelic variants in dynein axonemal heavy chain 11 (DNAH11) have been reported in association with PCD an...

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Autori principali:	Shun Wang, Yuyi Zhang, Min Wu, Yanyu He, Sainan Chen, Xueyun Xu, Meng Lv, Jiapeng Ji, Yuqing Wang
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2026-06-01
Serie:	Frontiers in Genetics
Soggetti:	DNAH11 gene exome sequencing nasal nitric oxide primary ciliary dyskinesia qPCR
Accesso online:	https://www.frontiersin.org/articles/10.3389/fgene.2026.1857794/full
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